A multi-phenotype analysis reveals 19 susceptibility loci for basal cell carcinoma and 15 for squamous cell carcinoma

Mathias Seviiri (), Matthew H. Law, Jue-Sheng Ong, Puya Gharahkhani, Pierre Fontanillas, Catherine M. Olsen, David C. Whiteman and Stuart MacGregor
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Mathias Seviiri: QIMR Berghofer Medical Research Institute
Matthew H. Law: QIMR Berghofer Medical Research Institute
Jue-Sheng Ong: QIMR Berghofer Medical Research Institute
Puya Gharahkhani: QIMR Berghofer Medical Research Institute
Pierre Fontanillas: 23andMe, Inc
Catherine M. Olsen: QIMR Berghofer Medical Research Institute
David C. Whiteman: University of Queensland
Stuart MacGregor: QIMR Berghofer Medical Research Institute

Nature Communications, 2022, vol. 13, issue 1, 1-14

Abstract: Abstract Basal cell carcinoma and squamous cell carcinoma are the most common skin cancers, and have genetic overlap with melanoma, pigmentation traits, autoimmune diseases, and blood biochemistry biomarkers. In this multi-trait genetic analysis of over 300,000 participants from Europe, Australia and the United States, we reveal 78 risk loci for basal cell carcinoma (19 previously unknown and replicated) and 69 for squamous cell carcinoma (15 previously unknown and replicated). The previously unknown risk loci are implicated in cancer development and progression (e.g. CDKL1), pigmentation (e.g. TPCN2), cardiometabolic (e.g. FADS2), and immune-regulatory pathways for innate immunity (e.g. IFIH1), and HIV-1 viral load modulation (e.g. CCR5). We also report an optimised polygenic risk score for effective risk stratification for keratinocyte cancer in the Canadian Longitudinal Study of Aging (794 cases and 18139 controls), which could facilitate skin cancer surveillance e.g. in high risk subpopulations such as transplantees.

Date: 2022
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DOI: 10.1038/s41467-022-35345-8

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